Chromosome 2 News and Research

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Chromosome 2 is one of the 23 pairs of chromosomes in humans. People normally have two copies of this chromosome. Chromosome 2 is the second largest human chromosome, spanning more than 237 million base pairs (the building material of DNA) and representing almost 8% of the total DNA in cells.

X chromosome exposed

An enzyme that binds differently to male and female sex chromosomes helps males to make up for their X chromosome shortage.

30 May 2008

Spontaneous mutations widespread in non-familial schizophrenia

People with schizophrenia from families with no history of the illness were found to harbor eight times more spontaneous mutations - most in pathways affecting brain development - than healthy controls, in a study supported in part the National Institutes of Health?s (NIH) National Institute of Mental Health (NIMH). By contrast, no spontaneous mutations were found in people with schizophrenia who had family histories of the illness.

30 May 2008

Rett syndrome gene found to be full of surprises

A study funded by the National Institutes of Health (NIH) has transformed scientists' understanding of Rett syndrome, a genetic disorder that causes autistic behavior and other disabling symptoms. Until now, scientists thought that the gene behind Rett syndrome was an "off" switch, or repressor, for other genes. But the new study, published today in Science, shows that it is an "on" switch for a startlingly large number of genes.

29 May 2008

Scientists sequence first female DNA

Geneticists of Leiden University Medical Centre (LUMC) are the first to determine the DNA sequence of a woman. She is also the first European whose DNA sequence has been determined. This has been announced by the researchers this morning, during a special press conference at 'Bessensap', a yearly meeting of scientists and the press in the Netherlands.

27 May 2008

Men at increased risk of death from pneumonia compared to women

Men who come to the hospital with pneumonia generally are sicker than women and have a higher risk of dying over the next year, despite aggressive medical care, according to a study being presented Tuesday, May 20, at the 104th International Conference of the American Thoracic Society. Scientific sessions are scheduled May 16 to 21 in Toronto.

19 May 2008

deCODE discovers novel genetic links between pigmentation traits and risk of skin cancer

In two papers published today, deCODE scientists and academic colleagues from Europe and the U.S. expand upon the company's recent findings in the genetics of pigmentation traits in people of European descent, and demonstrate that certain of these common variants also confer risk of two types of skin cancer.

19 May 2008

Discovery of gene mutation which causes epilepsy and mental retardation - but only in women

An Australian and British research team have discovered a gene mutation that causes epilepsy and mental retardation but only in women.

12 May 2008

Discovery of ten new genes related to human growth

Scientists are beginning to unravel the question why people distinctly vary in size. In cooperation with scientists of the HelmholtzZentrum Munchen, an international genome-wide study has discovered ten new genes that influence body height and thus provides new insights into biological pathways that are important for human growth.

11 May 2008

microRNAs provide more clues to genetics of schizophrenia

Researchers at Columbia University Medical Center have illuminated a window into how abnormalities in microRNAs, a family of molecules that regulate expression of numerous genes, may contribute to the behavioral and neuronal deficits associated with schizophrenia and possibly other brain disorders.

11 May 2008

Scientist discovers mechanism that 'silences' unmatched genes during cellular reproduction

When most people discover mold on their bread, they immediately throw it out. Others see a world of possibilities in the tiny fungus. A University of Missouri scientist, along with a collaborative research team, has examined a new mechanism in the reproductive cycle of a certain species of mold.

8 May 2008

Discovery of DNA variations in chromosome 6 that gives rise to neuroblastoma

Using advanced gene-hunting technology, an international team of researchers has for the first time identified a chromosome region that is the source of genetic events that give rise to neuroblastoma, an often fatal childhood cancer.

7 May 2008

Whole-organ genomic survey depicts journey from normal to malignant cell

Whole-organ maps that superimpose genetic information over the terrain of cancerous bladders chart the molecular journey from normal cell to invasive cancer, an international research team led by scientists at The University of Texas M. D. Anderson Cancer Center reports online at the journal Laboratory Investigation.

5 May 2008

Scientists discover 4th major set of common genetic variants linked to risk of estrogen receptor-positive breast cancer

Scientists from deCODE genetics report the discovery of two common single-letter variants (SNPs) on chromosome 5 of the human genome that are associated with risk of estrogen receptor-positive (ER+) breast cancer.

27 Apr 2008

Discovery of gene behind new form of intellectual disability

The Centre for Addiction and Mental Health (CAMH) has discovered a new form of intellectual disability involving mental retardation (MR) along with the eye defect retinitis pigmentosa (RP).

24 Apr 2008

Discovery of gene behind clefting disorder Branchio-Oculo-Facial syndrome

In a collaborative effort, researchers from Boston University School of Medicine (BUSM) have discovered that deletions or mutations within the TFAP2A gene (Activating Enhancer-Binding Protein) result in the distinctive clefting disorder Branchio-Oculo-Facial syndrome (BOFS).

23 Apr 2008

Scientists solve mystery about critical mechanism of gene expression

Although letters representing the three billion pairs of molecules that form the "rungs" of the helical DNA "ladder" are routinely called the human "genetic code," the DNA they comprise transmits traits across generations in a variety of ways, not all of which depend on the sequence of letters in the code.

22 Apr 2008